rs1057516259

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057516259(-;-)

Make rs1057516259(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64752012

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057516259
dbSNP (classic)	rs1057516259
ClinGen	rs1057516259
ebi	rs1057516259
HLI	rs1057516259
Exac	rs1057516259
Gnomad	rs1057516259
Varsome	rs1057516259
LitVar	rs1057516259
Map	rs1057516259
PheGenI	rs1057516259
Biobank	rs1057516259
1000 genomes	rs1057516259
hgdp	rs1057516259
ensembl	rs1057516259
geneview	rs1057516259
scholar	rs1057516259
google	rs1057516259
pharmgkb	rs1057516259
gwascentral	rs1057516259
openSNP	rs1057516259
23andMe	rs1057516259
SNPshot	rs1057516259
SNPdbe	rs1057516259
MSV3d	rs1057516259
GWAS Ctlg	rs1057516259

Max Magnitude

0

ClinVar
Risk	rs1057516259(-;-)
Alt	rs1057516259(-;-)
Reference	Rs1057516259(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64519484delG
CLNSRC
CLNACC	RCV000409547.1,